Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Inge Rauterberg-Ruland"'
Autor:
Heidi Holtgreve-Grez, Michaela Brough, Susanne Popp, Inge Rauterberg-Ruland, Anna Jauch, Monika Keller, Gholamali Tariverdian, H. D. Hager, Brigitte Schoell, Martin Granzow
Publikováno v:
Human Genetics. 107:51-57
Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfa6a44b35233c374e8b112fa5ae19b
https://doi.org/10.1007/s004390000321
https://doi.org/10.1007/s004390000321
Autor:
Gudrun A. Rappold, Jochen Tröger, Inge Rauterberg-Ruland, Simone Schiller, Anna Jauch, Gholamali Tariverdian, Kathrin Wolff, Dieter Hager, Stephanie Spranger
Publikováno v:
American Journal of Medical Genetics. 83:367-371
We report on a mother and her 5-year old son, both with a terminal deletion of the short arm of the X chromosome. By molecular genetic analysis the breakpoint was located distal to steroid sulfatase gene. The boy manifested, due to nullisomy of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b88db86ba9cc85fa0468c5dfbf292ac5
https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co
Publikováno v:
Monatsschrift Kinderheilkunde. 145:1054-1056
Wir beschreiben einen 18 Monate alten Jungen mit kongenitalem Vitium cordis, Dunndarmatresie, Mikrozephalie, fazialen Dysmorphien und psychomotorischer Retardierung, bei dem eine partielle Monosomie des kurzen Arms von Chromosom 8 vorliegt. Diskussio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c050d32ca51a105f3ea43137d8e7cb85
https://doi.org/10.1007/s001120050202
https://doi.org/10.1007/s001120050202
Autor:
Joachim Pietz, Rainer Graf, Otwin Linderkamp, André Rupp, Inge Rauterberg-Ruland, Johannes Peter, Dieter Sontheimer
Publikováno v:
Early human development. 79(2)
Outcome studies on the effects of prematurity are increasingly restricted to extremely immature infants with birth weight below 1000 g or gestational age below 26 weeks. In contrast, studies comprising low-risk preterm infants are rare.To examine gro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1abcae4d7d21d365073f65e85974f9e
https://pubmed.ncbi.nlm.nih.gov/15324993
https://pubmed.ncbi.nlm.nih.gov/15324993